Rovira Martí Pilar, Ullot Font Rosendo
Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950, Esplugues de LLobregat, Barcelona, Spain.
Int Orthop. 2016 Nov;40(11):2221-2231. doi: 10.1007/s00264-016-3257-5. Epub 2016 Aug 25.
Pycnodysostosis is a rare autosomal recessive genetic disorder usually diagnosed at an early age. The few previously published case series have generally focused on maxillofacial manifestations and genetic considerations. The purpose of this study was to evaluate the clinical characteristics and differential diagnosis of pycnodysostosis focusing on its orthopaedic manifestations, which have been poorly described in the literature.
We evaluated clinical and radiographic characteristics of five patients with pycnodysostosis.
Three male and two female patients were included in the study. One patient had consanguineous parents and two had a family history of pycnodysostosis. One patient was of normal height; four with short stature underwent growth hormone treatment. Most patients had bone fractures. All had typical cranial and orofacial manifestations, partial dysplasia of the terminal phalanges and increased bone density. Aplastic acromial ends and spondylolysis were not seen in any patient. Some patients had genu valgus, ankle valgus or sleep apnea; two required tympanic drains for serous otitis media. Two patients experienced nonunion.
Short stature is a consistent feature of pycnodysostosis that can be treated with growth hormone. To our knowledge, serous otitis media, nonunion and other orthopaedic manifestations have not been previously described in pycnodysostosis patients. Intramedullary nailing osteosynthesis can be difficult in these patients because of skeletal sclerosis; therefore, other surgical options should be considered. Nonunion is common in this population. Pycnodysostosis is a poorly described disease, but clinicians should be aware of its potential manifestations in order to appropriately diagnose, manage and follow-up patients.
致密性成骨不全症是一种罕见的常染色体隐性遗传病，通常在幼年时被诊断出来。此前发表的少数病例系列研究一般聚焦于颌面表现和遗传学因素。本研究的目的是评估致密性成骨不全症的临床特征及鉴别诊断，重点关注其骨科表现，而这在文献中描述较少。
我们评估了5例致密性成骨不全症患者的临床和影像学特征。
研究纳入3例男性和2例女性患者。1例患者父母为近亲结婚，2例有致密性成骨不全症家族史。1例患者身高正常；4例身材矮小患者接受了生长激素治疗。大多数患者有骨折。所有患者均有典型的头颅和口面部表现、末节指骨部分发育不全及骨密度增加。所有患者均未出现肩峰端发育不全和椎弓峡部裂。部分患者有膝外翻、踝外翻或睡眠呼吸暂停；2例因浆液性中耳炎需要鼓膜置管。2例患者出现骨折不愈合。
身材矮小是致密性成骨不全症的一个持续特征，可通过生长激素治疗。据我们所知，浆液性中耳炎、骨折不愈合和其他骨科表现此前在致密性成骨不全症患者中尚未有过描述。由于骨骼硬化，这些患者进行髓内钉内固定术可能困难；因此，应考虑其他手术选择。骨折不愈合在该人群中很常见。致密性成骨不全症是一种描述较少的疾病，但临床医生应了解其潜在表现，以便对患者进行恰当的诊断、管理和随访。
